Test Price
2,800 AED✅ Home Collection Available
CRYBB3 Gene Cataract, Autosomal Recessive Congenital Nuclear Type 2 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2022 Accredited Next Generation Sequencing (NGS) Processing.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation provided by DHA-licensed genetic counsellors.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced DNA test screens for pathogenic variants in the CRYBB3 gene, which are implicated in Autosomal Recessive Congenital Nuclear Cataract Type 2, a profound opacity of the lens present at birth. This analysis utilizes Next Generation Sequencing (NGS) to provide definitive molecular confirmation, guiding precise ophthalmic surgical planning and lifelong management.
| Feature | Our Test (NGS Precision) | Closest Alternative (Sanger Sequencing Single Gene) |
|---|---|---|
| Diagnostic Precision | Full-gene coverage (exons/intronic boundaries) with copy number variant (CNV) detection capability | Targeted mutation analysis only; misses novel or deep intronic mutations |
| Methodology | Next Generation Sequencing (NGS) with verified 99.9% sensitivity and orthogonal confirmation | Capillary Electrophoresis; lower throughput, limited scope |
| Turnaround Time | 3 to 4 Weeks (comprehensive bioinformatic analysis included) | 4 to 6 Weeks (often batched, delayed reporting) |
Physician Insight & Safety Protocols
"Genetic confirmation of a CRYBB3 mutation enables precise counselling for family planning and early intervention. As a clinical geneticist, I emphasize segregation analysis in parents to confirm autosomal recessive inheritance, providing an accurate 25% recurrence risk for future offspring. This result stratifies surgical urgency for infants with neonatal lens opacity."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA License: 9294403)
Advisory: Pre-Procedural Medication Continuation
Do not discontinue prescribed ophthalmic drops or systemic medications without explicit physician approval. Disruption of mydriatic or anti-inflammatory regimens prior to surgery may compromise intraoperative outcomes.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Leukoreduction-filtered blood sample (insufficient leukocyte DNA yield). Invasive prenatal testing via amniocentesis or CVS requires separate prior genetic counselling.
- Safety Red Flag: If the infant presents with leukocoria with a diminished or absent red reflex, this constitutes an urgent ophthalmic emergency requiring immediate A&E referral, regardless of pending genetic results.
- Interference: Recent allogeneic bone marrow transplantation may lead to false genotyping results due to donor chimerism in whole blood.
Patient FAQ & Clinical Guidance
1. What is the purpose of this genetic test for CRYBB3?
A: This test precisely sequences the CRYBB3 gene to confirm autosomal recessive congenital nuclear cataract type 2. It identifies single nucleotide variants and small deletions, enabling accurate diagnosis, surgical timing, and genetic counselling for families.
2. How long does it take to receive results after sample collection?
A: The turnaround time is 3 to 4 weeks following sample receipt, due to comprehensive NGS bioinformatic analysis and orthogonal confirmation. This ensures complete sequence coverage and diagnostic accuracy.
3. Can a blood sample be collected at home for my newborn?
A: Yes, our DHA-compliant pediatric phlebotomists perform gentle venipuncture using minimal blood volume or FTA cards. The collection kit is dispatched via temperature-controlled cold chain, ensuring sample integrity without causing distress to the infant.
UAE Regulatory & Data Privacy Adherence
This laboratory service strictly complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Patient consent for genetic testing follows Federal Decree-Law No. 4 of 2016 on Medical Liability. Accredited by ISO 15189:2022 and DHA Facility License 1143 for NGS diagnostic services.
Clinical & Logistical Metadata
| Test Name | CRYBB3 Gene Cataract, Autosomal Recessive Congenital Nuclear Type 2 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks (subject to sample quality and bioinformatic analysis) |
| Sample Type / Matrix | Whole Blood (Peripheral) or FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) with full-gene coverage and CNV detection |
| ICD-10-CM Code | Q12.0 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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